Article
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Nature genetics - 4 Sept 2011
Ostergaard Pia, Simpson Michael A, Connell Fiona C, Steward Colin G, Brice Glen, Woollard Wesley J, Dafou Dimitra, Kilo Tatjana, Smithson Sarah, Lunt Peter, Murday Victoria A, Hodgson Shirley, Keenan Russell, Pilz Daniela T, Martinez-Corral Ines, Makinen Taija, Mortimer Peter S, Jeffery Steve, Trembath Richard C, Mansour Sahar
Abstract excerpt
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema...
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